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  1. Nagy, Sara [Author]; Lau, Tracy [Author]; Alavi, Shahryar [Author]; Karimiani, Ehsan Ghayoor [Author]; Vallian, Jalal [Author]; Ng, Bobby G. [Author]; Noroozi Asl, Samaneh [Author]; Akhondian, Javad [Author]; Bahreini, Amir [Author]; Yaghini, Omid [Author]; Uapinyoying, Prech [Author]; Boennemann, Carsten G. [Author]; Freeze, Hudson H. [Author]; Dissanayake, Vajira H. W. [Author]; Sirisena, Nirmala D. [Author]; Schmidts, Miriam [Author]; Houlden, Henry [Author]; Moreno‐De‐Luca, Andres [Author]; Maroofian, Reza [Author]

    A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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    Oxford: Wiley, 2022

    Published in: Clinical genetics ; 102, 6 (2022), 530-536

  7. Rabiei, Katayoun; Kelishadi, Roya; Sarrafzadegan, Nizal; Abedi, Heidar Ali; Alavi, Mousa; Heidari, Kamal; Bahonar, Ahmad; Boshtam, Maryam; Zare, Karim; Sadeghi, Shahryar

    Process evaluation of a community-based program for prevention and control of non-communicable disease in a developing country: The Isfahan Healthy Heart Program, Iran

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    Springer Science and Business Media LLC, 2009

    Published in: BMC Public Health, 9 (2009) 1

  8. Novis, Luiz Eduardo; Frezatti, Rodrigo S.; Pellerin, David; Tomaselli, Pedro J.; Alavi, Shahryar; Della Coleta, Marcus Vinícius; Spitz, Mariana; Dicaire, Marie-Josée; Iruzubieta, Pablo; Pedroso, José Luiz; Barsottini, Orlando; Cortese, Andrea; Danzi, Matt C.; França, Marcondes C.; Brais, Bernard; Zuchner, Stephan; Houlden, Henry; Raskin, Salmo; Marques, Wilson; Teive, Helio A.

    Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

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    Ovid Technologies (Wolters Kluwer Health), 2023

    Published in: Neurology Genetics, 9 (2023) 5

  9. Nagy, Sara; Lau, Tracy; Alavi, Shahryar; Karimiani, Ehsan Ghayoor; Vallian, Jalal; Ng, Bobby G.; Noroozi Asl, Samaneh; Akhondian, Javad; Bahreini, Amir; Yaghini, Omid; Uapinyoying, Prech; Bonnemann, Carsten; Freeze, Hudson H.; Dissanayake, Vajira H. W.; Sirisena, Nirmala D.; Schmidts, Miriam; Houlden, Henry; Moreno‐De‐Luca, Andres; Maroofian, Reza

    A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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    Wiley, 2022

    Published in: Clinical Genetics, 102 (2022) 6, Seite 530-536

  10. Rosenhahn, Erik; O’Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; [...]

    Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

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    Elsevier BV, 2022

    Published in: The American Journal of Human Genetics, 109 (2022) 8, Seite 1421-1435

  11. Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; [...]

    Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

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    Oxford University Press (OUP), 2023

    Published in: Brain, 146 (2023) 12, Seite 5031-5043

  12. Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y.V.; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; [...]

    Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

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    Elsevier BV, 2023

    Published in: Genetics in Medicine, 25 (2023) 1, Seite 135-142

  13. Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O’Brien, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; [...]

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

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    Elsevier BV, 2023

    Published in: Genetics in Medicine, 25 (2023) 1, Seite 90-102

  14. Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; [...]

    The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

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    Oxford University Press (OUP), 2023

    Published in: Brain, 146 (2023) 8, Seite 3273-3288

  15. Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; [...]

    Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

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    Wiley, 2022

    Published in: Annals of Neurology, 92 (2022) 2, Seite 304-321

  16. Aksu, Funda; Topacoglu, Hakan; Arman, Candan; Atac, Aytul; Tetik, Suleyman; Hasanovic, Aida; Kulenovic, Amela; Mornjakovic, Zakira; Pikula, Branko; Sarac-Hadzihalilovic, Aida; Voljevica, Alma; Bamac, Belgin; Colak, Tuncay; Alemdar, Murat; Dundar, Gulmine; Selekler, Macit; Dincer, Ozgur; Colak, Enis; Ozbek, Aydin; Kilic, Cenk; Kamburoglu, Kivanc; Ozen, Tuncer; Kavak, Vatan; Kirici, Yalcin; [...]

    Poster presentations

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    Springer Science and Business Media LLC, 2009

    Published in: Surgical and Radiologic Anatomy, 31 (2009) S1, Seite 95-229